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Article Dans Une Revue Human Molecular Genetics Année : 2015

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy

Claudia Nesti
  • Fonction : Auteur
Maria Chiara Meschini
  • Fonction : Auteur
Michele Sacchini
  • Fonction : Auteur
Stefano Doccini
  • Fonction : Auteur
Alessandro Romano
  • Fonction : Auteur
Sara Petrillo
  • Fonction : Auteur
Ilaria Pezzini
  • Fonction : Auteur
Nadir Seddiki
  • Fonction : Auteur
Anna Rubegni
  • Fonction : Auteur
Fiorella Piemonte
  • Fonction : Auteur
M. Alice Donati
  • Fonction : Auteur
Filippo M. Santorelli
  • Fonction : Auteur

Résumé

We describe the case of a woman in whom combination of a mitochondrial (MT-CYB) and a nuclear (SDHB) mutation was associated with clinical and metabolic features suggestive of a mitochondrial disorder. The mutations impaired overall energy metabolism in the patient's muscle and fibroblasts and increased cellular susceptibility to oxidative stress. To clarify the contribution of each mutation to the phenotype, mutant yeast strains were generated. A significant defect in strains carrying the Sdh2 mutation, either alone or in combination with the cytb variant, was observed. Our data suggest that the SDHB mutation was causative of the mitochondrial disorder in our patient with a possible cumulative contribution of the MT-CYB variant. To our knowledge, this is the first association of bi-genomic variants in the mtDNA and in a nuclear gene encoding a subunit of complex II.

Dates et versions

hal-01452058 , version 1 (01-02-2017)

Identifiants

Citer

Claudia Nesti, Maria Chiara Meschini, Brigitte Meunier, Michele Sacchini, Stefano Doccini, et al.. Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. Human Molecular Genetics, 2015, 24 (11), pp.3248--3256. ⟨10.1093/hmg/ddv078⟩. ⟨hal-01452058⟩
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